The elucidation of the genetic background of osteogenesis imperfecta : Deployment to the custom-made medical treatment by a genotype.

22例成骨不全患者COL1A1和COL1A2的测序分析显示了14个突变。这14个突变中的每一个都只在一个家族中被发现。COL1A1和COL1A2突变等位基因是异质的。甘氨酸到丝氨酸的取代往往会导致更严重的表型。多数患者巩膜呈蓝色，牙本质发育不全。双磷酸显著增加了所有患者的骨密度，但没有发现突变基因或突变类型与骨密度增加之间的相关性。

Sequencing analysis of COL1A1 and COL1A2 in 22 OI patients revealed 14 mutations. Each of the 14 mutations was found only in a single family. COL1A1 and COL1A2 mutant alleles are heterogeneous. Glycine to serine substitutions tend to lead to a more severe phenotype. Most of the patients had blue sclerae and dentinogenesis imperfecta. Bisphosphpnate significantly increased BMD in all the patients, though no correlation was found between the mutated gene or mutation type and increment in BMD.